HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957003G>T , CM000685.2:g.154957003G>T | GRCh38 |
NC_000023.10:g.154185278G>T , CM000685.1:g.154185278G>T | GRCh37 |
NC_000023.9:g.153838472G>T | NCBI36 |
NG_011403.1:g.70721C>A | |
NG_011403.2:g.70721C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1706C>A MANE Select | ENSP00000353393.4:p.Pro569His | |
ENST00000647125.1:c.*1582C>A | ENSP00000496062.1:n.*1582C>A | |
ENST00000360256.8:c.1706C>A | ENSP00000353393.4:p.Pro569His | |
NM_000132.3:c.1706C>A | NP_000123.1:p.Pro569His | |
XM_011531126.1:c.1601C>A | XP_011529428.1:p.Pro534His | |
NM_000132.4:c.1706C>A MANE Select | NP_000123.1:p.Pro569His |